Wolmans Disease

Wolman's disease, a rare autosomal disorder of infants, is caused by a deficiency of the lysosomal enzyme acid lipase. As a result, triglycerides and cholesteryl-esters accumulate in the visceral organs, lymph nodes, bone marrow, and adrenals, which often show cortical calcifications. The brain shows lipid-containing foamy cells in the choroid plexus and leptomeninges. Death occurs in the first year of life. A milder form of the disease affects adults and presents with hepatomegaly, premature atherosclerosis, and hyperlipoproteinemia.

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